Introduction
Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism.
Genetic Counsellors
Genetic counsellors are professionals who have special training to help people and families cope with and understand genetic conditions. They are also trained to provide counselling and support for people and families with genetic conditions.
What Genetics Professionals Do
- Ask questions about medical, family, and pregnancy history
- Talk about birth defects and genetic conditions
- Explain chances of a genetic condition occurring or recurring within the family
- Discuss how genetic conditions are passed down in the family
- Talk about illnesses and chemicals that can cause birth defects
- Recommend and order tests that can help diagnose a condition, and explain test results
- Discuss treatment options for a genetic condition
- Help people deal with feelings about how genetic conditions affect their families
- Answer medical questions and address emotional concerns
- Explore reproductive options
- Refer people to other resources for help
Pre-marital counselling
A couple or an individual who has concerns about inheritance of a condition or disease in their children require information to make an informed choice. Genetic counsellor helps in identifying families at increased risk, and to provide them with risk information and carrier testing when feasible.
This is specially true in case of consanguineous (Eg. cousins, uncle-niece) marriages, which is customary in many societies including India, which leads to an increased birth prevalence of infants with recessive disorders (Autosomal recessive Inheritance hyperlink).
Genetic testing
Genetic diagnoses do not always depend on chromosomes or DNA tests. They can be made by a variety of means, including the physical examination, family history, routine blood/tissue test, radiological and electrophysiological examinations.
Genetic tests are classified based on their purpose. The most common is diagnostic testing in which a DNA-based test is used to confirm or rule out a specific genetic disorder.
In pre-symptomatic genetic testing, a healthy person is tested for a condition with delayed onset. A positive result indicates that the patient will develop the condition but does not indicate when this will occur. Evaluating a healthy person with a family history of Huntington’s disease is an example of pre-symptomatic genetic testing. While there is no cure for this disease, a positive result can be used for life planning, including reproductive planning, as well as treatment.
Predisposition genetic testing differs from pre-symptomatic testing in that it informs individuals of an increased or decreased risk of developing the condition in question; however, the degree of certainty is unknown. This most often applies to cancer predisposition testing in which a positive result indicates a need for increased surveillance, while a negative result implies a risk similar to the general population but is not negligible.
A third type of genetic testing is intended to help couples make reproductive decisions. This testing includes carrier testing, prenatal diagnostic testing and pre-implantation testing performed in conjunction with in vitro fertilization. It is very important to understand that reproductive genetic testing is not necessarily tied to abortion. When a family decides to initiate or continue a pregnancy at high-risk for a genetic condition, the information can be used for future planning, such as lifesaving treatment of the infant at birth.
Cancer Counselling
Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history with features suggestive of hereditary cancer. These features vary by type of cancer and specific hereditary syndrome. Genetic counsellors work on identifying the risk based on the family history and help in suitable testing.
Dysmorphology Counselling
New born children are referred for genetic counselling because of suspected birth defects, genetic disorders, congenital malformations and/or dysmorphic features.
Inborn errors of metabolism Counselling
This provides assessment, diagnosis, management and counselling for new borns, children, adults and their families with suspected or confirmed inborn errors of metabolism (metabolic diseases)
Bad Obstetric history counselling
Genetic counsellors will help the couple to understand the role of genetics in their infertility and also suggest the suitable screening tests to identify the cause. They emphasize the role of heredity in occurrence and recurrence. Helps choose appropriate course of action in view of family goals.
Complex disease counselling
The role of genetic counsellor in the management of complex disorders apart from their routine is to provide an effective adjunct to alter behaviour and promote health lifestyle changes based on their test outcomes and heredity.